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2017

  1. Bergmann AK, Castellano G, Alten J, Ammerpohl O, Kolarova J, Nordlund J, Martin-Subero JI, Schrappe M, Siebert R. (2017) DNA methylation profiling of pediatric B-cell lymphoblastic leukemia with KMT2A rearrangement identifies hypomethylation at enhancer sites. Pediatr Blood Cancer. 64(3)
  2. Björkman A, Du L, van der Burg M, Cormier-Daire V, Borck G, Pié J, Anderlid BM, Hammarström L, Ström L, de Villartay JP, Kipling D, Walters DD, Pan-Hammarström Q. (2017)Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome. J Allergy Clin Immunol. [Epub ahead of print]
  3. Brunner C, Davies NM, Martin RM, Eeles R, Easton D, Kote-Jarai Z, A Olama AA, Benlloch S, Muir K, Giles G, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Donovan J, Hamdy FC, Pashayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H; PRACTICAL Consortium,, Zuccolo L. (2017) Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study. Int J Cancer. 140(1):75-85.
  4. Bozzai B, Hasselblatt M, Turányi E, Frühwald MC, Siebert R, Bens S, Schneppenheim R, Kool M, Stelczer G, Hortobágyi T, Hauser P. (2017) Atypical teratoid/rhabdoid tumor arising in a malignant glioma. Pediatr Blood Cancer. 64(1):96-99.
  5. Dai B, Grau M, Juilland M, Klener P, Höring E, Molinsky J, Schimmack G, Aukema SM, Hoster E, Vogt N, Staiger AM, Erdmann T, Xu W, Erdmann K, Dzyuba N, Madle H, Berdel WE, Trneny M, Dreyling M, Jöhrens K, Lenz P, Rosenwald A, Siebert R, Tzankov A, Klapper W, Anagnostopoulos I, Krappmann D, Ott G, Thome M, Lenz G. (2017) B-cell receptor driven MALT1 activity regulates MYC signaling in mantle cell lymphoma. Blood 129(3):333-346
  6. Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U. (2017) DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. Am J Med Genet A. 173(5):1369-1373
  7. Gaspar H, Lutz B, Reicherter K, Lühl S, Taurman R, Gabriel H, Brenner RE, Borck G. (2017) 4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. Am J Med Genet A. 173(8):2289-2292
  8. Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D, Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caligo MA, Chiquette J, Chung WK, Claes KB, Daly MB, Damiola F, Davidson R, De la Hoya M, De Leeneer K, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Eccles D, Eeles R, Einbeigi Z, Ejlertsen B; EMBRACE, Engel C, Gareth Evans D, Feliubadalo L, Foretova L, Fostira F, Foulkes WD, Fountzilas G, Friedman E, Frost D, Ganschow P, Ganz PA, Garber J, Gayther SA; GEMO Study Collaborators, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gronwald J, Hahnen E, Hamann U, Hansen TV, Hart S, Hays JL; HEBON, Hogervorst FB, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Joseph V, Just W, Kaczmarek K, Karlan BY; KConFab Investigators, Kets CM, Kirk J, Kriege M, Laitman Y, Laurent M, Lazaro C, Leslie G, Lester J, Lesueur F, Liljegren A, Loman N, Loud JT, Manoukian S, Mariani M, Mazoyer S, McGuffog L, Meijers-Heijboer HE, Meindl A, Miller A, Montagna M, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Nussbaum RL, Olah E, Olopade OI, Ong KR, Oosterwijk JC, Osorio A, Papi L, Park SK, Pedersen IS, Peissel B, Segura PP, Peterlongo P, Phelan CM, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Richardson A, Robson M, Rodriguez GC, Rookus MA, Schmutzler RK, Sevenet N, Shah PD, Singer CF, Slavin TP, Snape K, Sokolowska J, Sønderstrup IM, Southey M, Spurdle AB, Stadler Z, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Tan Y, Tea MK, Teixeira MR, Teulé A, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van den Ouweland AM, van der Luijt RB, van Engelen K, van Rensburg EJ, Varon-Mateeva R, Wappenschmidt B, Wijnen JT, Rebbeck T, Chenevix-Trench G, Offit K, Couch FJ, Nord S, Easton DF, Antoniou AC, Simard J. (2017) Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat. 161(1):117-134
  9. Jee YH, Sowada N, Markello TC, Rezvani I, Borck G, Baron J (2017) BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies. Clin Genet. 91(5):739-747
  10. Johann PD, Hovestadt V, Thomas C, Jeibmann A, Heß K, Bens S, Oyen F, Hawkins C, Pierson CR, Aldape K, Kim SP, Widing E, Sumerauer D, Hauser P, van Landeghem F, Ryzhova M, Korshunov A, Capper D, Jones DTW, Pfister SM, Schneppenheim R, Siebert R, Paulus W, Frühwald MC, Kool M, Hasselblatt M (2017) Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. Brain Pathol. 27(4):411-418
  11. Kehrer-Sawatzki H, Farschtschi S, Mautner VF, Cooper DN (2017) The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Human Genet. 136(2):129-148.
  12. Kehrer-Sawatzki H, Mautner VF, Cooper DN. (2017) Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet. 136(4):349-376
  13. Netzer NC, Strohl KP, Högel J, Gatterer H, Schilz R. (2017) Right ventricle dimensions and function in response to acute hypoxia in healthy human subjects. Acta Physiol (Oxf). 219(2):478-485
  14. Smirin-Yosef P, Zuckerman-Levin N, Tzur S, Granot Y, Cohen L, Sachsenweger J, Borck G, Lagovsky I, Salmon-Divon M, Wiesmüller L, Basel-Vanagaite L (2017)A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. J Clin Endocrinol Metab. 102(2):681-688
  15. Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J1, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. (2017) EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat. 38(4):409-425
  16. Steinacker P, Huss A, Mayer B, Grehl T, Grosskreutz J, Borck G, Kuhle J, Lulé D, Meyer T, Oeckl P, Petri S, Weishaupt J, Ludolph AC, Otto M (2017) Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-net Amyotroph Lateral Scler Frontotemporal Degener 18(1-2):112-119
  17. Taylor AE, Martin RM, Geybels MS, Stanford JL, Shui I, Eeles R, Easton D, Kote-Jarai Z, Amin Al Olama A, Benlloch S Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Pashayan N, Khaw KT, Blot W, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H; PRACTICAL Consortium, Donovan J, Munafò MR. (2017) Investigating the possible causal role of coffee consumption with prostate cancer risk and progression using Mendelian randomization analysis. Int J Cancer 140(2):322-328
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